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Protein Coding Gene : Lbr lamin B receptor

Primary Identifier  MGI:2138281 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  98386
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables delta14-sterol reductase activity. Involved in cholesterol biosynthetic process and neutrophil differentiation. Located in nuclear membrane. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and liver. Used to study Pelger-Huet anomaly; ichthyosis vulgaris; and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in Greenberg dysplasia; Pelger-Huet anomaly; and primary biliary cholangitis. Orthologous to human LBR (lamin B receptor).
PHENOTYPE: Mutations in this gene result in abnormal skin and hair and impair growth. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-11144,
  • AI505894,
  • ichthyosis,
  • MGI:96390,
  • ic,
  • Lbr,
  • expressed sequence AI505894,
  • lamin B receptor

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

28 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For